Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.P1091delFs

c.3272delC

Surrounding Variants

1 paper

NM_000038.6

p.Q1090Q

c.3270A>G

2 papers

NM_000038.6

p.Q1090R

c.3269A>G

2 papers

NM_000038.6

p.P1091S

c.3271C>T

1 paper

NM_000038.6

p.P1091fs

c.3271_3272fs

1 paper

NM_000038.6

p.Q1090K

c.3268C>A

1 paper

NM_000038.6

p.Q1090_P1091insG

c.3268_3272ins3

3 papers

NM_000038.6

p.Q1090*

c.3268C>T

2 papers

NM_000038.6

p.P1091L

c.3272C>T

1 paper

NM_000038.6

p.Q1090fs

c.3268_3269fs

1 paper

NM_000038.6

p.Q1090_P1091ins0

c.3269_3271dupAAC

4 papers

NM_000038.6

p.H1092Y

c.3274C>T

1 paper

NM_000038.6

p.Q1090_P1091insFs

c.3270_3273dup4